Parliamentarians in Europe discuss genomics in public health care

An important future challenge facing healthcare systems in Europe is how to deal with data and technologies provided by advanced genetic research. DNA sequencing technologies are rapidly becoming cheaper and faster. Experts expect that this will ultimately give us the tools to understand individual genomes and to accurately predict their consequences, thus allowing for detailed risk profiling of individuals as the basis for targeted medical interventions. The promise is more effective health care practices that are more personalized, predictive, preventive, and consumer-driven.

However, experts also see a clear threat that premature technology and market driven applications of DNA sequencing will inundate physicians and patients with meaningless or uninterpretable data. There is a wide gap between our ability to generate ‘more data for less money’ and our ability to understand them or validate their clinical utility. Indeed, political intervention is needed to guarantee that the use of genomic technologies in public health services does not lead to detrimental consequences.

Step-by-step approach needed

These promises and concerns warrant a careful, step-by-step approach to the development and diffusion of genome-based information and technologies. The challenge for policy makers at the European and national level is what a step-by-step approach might involve in their own countries. As the Future Panel process made clear, we should not think of the future in terms of Public Health Genomics as a ‘road map’ taking us in one particular direction. We should rather carefully look at the variety of ways in which any single new development could affect the health care landscape in the future. Determining acceptable ways in which health care practices could be improved by genomic information and technologies thus requires political and societal debate.

One important issue is the increasing quantity of data travelling between research and patient care whereby data collected for medical purposes are shared for research purposes and statistical analysis. Most variation in our DNA has not yet been investigated and we cannot yet assign potential consequences to this variation for individual health and disease. In order to establish such relationships, it will be necessary to combine clinical and genomic data from large numbers of individuals and to collect these data in an extended network of ‘biobanks ‘. This raises challenging questions about data security and privacy, as becomes clear from the Special Report in this VOLTA issue.

DNA sequencing technologies are also being introduced already in a clinical context, especially for diagnosis in children born with congenital disabilities and/or mental retardation, and for prenatal diagnosis of abnormalities observed during ultrasound. As available DNA-sequencing technologies are rapidly becoming cheaper and faster, it may become more and more routine to sequence genes or even whole genomes of individuals to screen them for particular medical conditions or health risks. Possibilities for whole-genome sequencing in widely established programs for reproductive and newborn screening are currently intensively debated by scientists and clinicians and may raise in the near future difficult questions of what and when to screen for.

Newborn screening

An important development raising debates about possibilities of genome-wide screening is the introduction of non-invasive prenatal testing (NIPT) as a replacement for established forms of prenatal screening for Down Syndrome. NIPT is based on the analysis of foetal DNA isolated from the maternal blood and can be used as a screening tool for Down Syndrome and other chromosomal abnormalities. However, as soon as NIPT becomes widely available in a setting of routinely offered prenatal screening, it may also create opportunities for the introduction of more genome-wide forms of screening. In this context, new questions will arise about what information to offer in the context of reproductive choice, questions that may become especially urgent as a result of commercial initiatives in offering NIPT.

Established programs for newborn screening (NBS) are another context in which genome-wide screening might be considered. NBS programs in Europe currently aim to identify 1 to 30 treatable conditions. Taking into account current developments in DNA sequencing, targeted genome-wide screening for a panel of well-chosen diseases could be envisaged based on the criteria used or suggested today to develop a screening program. If indeed a switch would be made to genome-wide screening in NBS programs, a more far-reaching possibility would be to keep the whole genome sequence of the newborn for future use. The sequence information could be stored in the clinical record to be available for analysis when dealing with specific individual health issues or risks later in life.

Obviously these new possibilities raise challenging questions, both about the scope of genome-wide screening options offered to individuals, and about the importance and meaning of informed consent as a fundamental patient right. How to avoid that genome-wide screening becomes an intractable burden to informed decision-making? And to what extent do parents have the right to make far-reaching decisions about full genome analysis for their children without knowing the possible benefits of such an analysis at the time taken?

Policymakers will increasingly have to face such questions in the near future. The aim of the PACITA Future Panel project has been to enable parliamentarians, policy makers, health care providers and other stakeholders to make informed and country-specific decisions about the introduction of genome-based information and technologies (GBIT) into a variety of health care settings. The project yielded suggestions for a step-by-step approach to the introduction of GBIT in health care on a European level. A challenge for national governments is now to determine what a step by step approach to the introduction of GBIT in health care will require in their country.

Future Panel

Parliament to discuss issues and options for the future of ‘public health genomics’. The event in Lisbon concluded one of the three PACITA demonstration projects. The project was a collaborative experience involving partners from The Netherlands, Germany, Lithuania and Portugal.

At the start of the project in November 2012, parliamentarians from the Future Panel identified major policy questions relating to the future of public health genomics. These were the starting point for an expert consultation process resulting in four Expert Working Group Reports focusing on different themes. On the basis of these reports an Expert Paper was produced focusing on policy issues raised by developments in public health genomics. Finally, policy options for dealing with these issues have been described in an extended Policy Brief that served as an agenda for the Policy Hearing in Lisbon.

Text: Dirk Stemerding and André Krom

Photo courtesy of the Portuguese Parliament

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volTA magazine

volTA was a magazine on Science, Technology and Society in Europe, initiative of fifteen technology assessment organisations that worked together in the European PACITA project aimed at increasing the capacity and enhancing the institutional foundation for knowledge-based policy-making on issues involving science, technology and innovation. It was published between 2011 and 2015 in 8 numbers.